Pheochromocytoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma.
|
31492822 |
2020 |
Pheochromocytoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas and pheochromocytomas and have been associated with germline heterozygous mutations in MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, or TMEM127.
|
31705439 |
2019 |
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Higher risk of phaeochromocytoma/paraganglioma (Phaeo-Pgl) in SDHD than SDHB carriers: an Australian cohort study.
|
30957378 |
2019 |
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In family 3, two cases of SDHD gene mutation were found, both characterized by vagus PGL and pheochromocytoma.
|
30484866 |
2019 |
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report a series of 10 patients carrying pathogenic variants in the SDHD gene from five tertiary referral centers for paraganglioma (PGL) in the Netherlands, who presented with a sympathetic PGL (sPGL), pheochromocytoma (PHEO), or metastases outside the head and neck region in the absence of excessive catecholamine production.
|
31194241 |
2019 |
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We here report a 31-year-old patient with a known SDHD mutation whose disease has been revealed by a left PHEO during childhood and who presented at age 29 years a large paraganglioma of the right jugular foramen, a concomitant PHEO of the left adrenal and 2 retroperitoneal paragangliomas.
|
31348302 |
2019 |
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline SDHB and SDHD mutations in pheochromocytoma and paraganglioma patients.
|
30352407 |
2018 |
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Multifocal Paraganglioma and Pheochromocytoma Due to Truncated SDHD Mutation.
|
29545045 |
2018 |
Pheochromocytoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
We have retrospectively studied 31 genetically proven VHL patients with pheochromocytoma/paraganglioma (PCC/PGL) from families and have reviewed the World literature on PCC/PGL in patients with large VHL deletions.
|
29124493 |
2018 |
Pheochromocytoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
ACC = adrenal cortical carcinoma; APA = aldosterone-producing adenoma; APCC = aldosterone-producing cell cluster; CAH = congenital adrenal hyperplasia; CT = computed tomography; DOTATATE = [<sup>68</sup>Ga]-DOTA(0)-Tyr(3)-octreotate; FDG = fluorodeoxyglucose; FH = fumarate hydratase; MR = miner-alocorticoid; MDH2 = malate dehydrogenase 2; PCC = pheochromocytoma; PET = positron emission tomography; PGL = paraganglioma; SCS = subclinical cortisol-secreting; SDHB = succinate dehydrogenase subunit B; TCGA = The Cancer Genome Atlas.
|
28332880 |
2017 |
Pheochromocytoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma.
|
27856506 |
2017 |
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to determine whether SDHB and SDHD gene mutations in patients with pheochromocytoma/paraganglioma could be determined using a salivary sample.
|
26916530 |
2016 |
Pheochromocytoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.
|
27279923 |
2016 |
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
SDHD immunohistochemistry: a new tool to validate SDHx mutations in pheochromocytoma/paraganglioma.
|
25405498 |
2015 |
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in Von Hippel-Lindau (VHL), succinate dehydrogenase subunit B (SDHB), SDHC, and SDHD have been detected in individuals with synchronous or metachronous pheochromocytoma/paraganglioma (PHEO/PGL) and renal cell carcinoma (RCC).
|
25800244 |
2015 |
Pheochromocytoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.
|
26008905 |
2015 |
Pheochromocytoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.
|
26269449 |
2015 |
Pheochromocytoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Although 14 different genes have been linked to paraganglioma/pheochromocytoma, a subgroup of these genes is associated with hereditary paraganglioma-pheochromocytoma, the genes related to mitochondrial succinate dehydrogenase (SDH) including SDHA, SDHB, SDHC, SDHD and the assembly factor SDHAF2.
|
26067997 |
2015 |
Pheochromocytoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Determining the mutational status of susceptibility genes including RET, VHL, SDHx (SDHB, SDHC, SDHD) among patients with pheochromocytoma/paraganglioma (PCC/PGL) is gaining importance.
|
24977658 |
2015 |
Pheochromocytoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
All deletions include SDHD, which is implicated in hereditary paraganglioma/pheochromocytoma, for which the patients will need to be monitored in adulthood.
|
25735893 |
2015 |
Pheochromocytoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.
|
25494863 |
2015 |
Pheochromocytoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
The present findings for the first time demonstrate a significantly increased succinate-to-fumarate ratio in SDHB/D-related PGLs and thus suggest this ratio may be used as a new metabolic marker for the detection of SDHB/D-related PHEOs/PGLs.
|
24189137 |
2014 |
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we explore the underlying molecular basis of three cases of paraganglioma or pheochromocytoma that came to our attention due to apparent maternal transmission of an SDHD mutation.
|
25300370 |
2014 |
Pheochromocytoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Challenges in the diagnosis of pheochromocytoma and paraganglioma syndrome.
|
25275255 |
2014 |
Pheochromocytoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Role of SDHAF2 and SDHD in von Hippel-Lindau associated pheochromocytomas.
|
24322175 |
2014 |